ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for Central core disease, autosomal recessive

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP
NM_000540.2(RYR1):c.10579C>T (p.Pro3527Ser)	rs118192164
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168

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